Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 501 0.23 63 0.32
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 471 0.16 23 4.8E-02
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		1 27 1 4.6E-04 6 3.3E-02
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		50 15 25 1.1E-02 5 3.0E-02
CUI: C0302142
Disease: Deformity
Deformity 		350 26 150 6.3E-02 5 2.8E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 212 8.8E-02 6 2.8E-02
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		184 35 79 3.5E-02 5 2.6E-02
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		1 43 1 4.6E-04 5 2.5E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		639 50 144 5.4E-02 5 2.5E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 1067 0.33 17 2.4E-02
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		95 12 41 1.8E-02 4 2.4E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		241 69 87 3.8E-02 5 2.2E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 451 0.16 5 2.2E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 351 0.16 5 2.2E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 345 0.13 6 2.2E-02
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		69 36 15 6.8E-03 4 2.1E-02
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		370 39 76 3.1E-02 4 2.1E-02
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		371 39 76 3.1E-02 4 2.1E-02
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		430 96 111 4.5E-02 5 2.0E-02
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 49 173 7.5E-02 4 2.0E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		1 3 1 4.6E-04 3 1.9E-02
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		140 5 61 2.7E-02 3 1.9E-02
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		25 5 16 7.4E-03 3 1.9E-02
CUI: C4024948
Disease: Anterior encephalocele
Anterior encephalocele 		3 5 1 4.6E-04 3 1.9E-02
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		3 6 3 1.4E-03 3 1.9E-02